Development of a new gene therapy drug as a treatment for hypophosphatasia

Abstract

Development of a new gene therapy drug as a treatment for hypophosphatasia The current primary treatment for hypophosphatasia is enzyme replacement therapy however the development of a new gene therapy drug, ARU-2801, may change the landscape forever. Hypophosphatasia (HPP) is a rare bone disease caused by mutations in the ALPL gene, which encodes tissue- nonspecific alkaline phosphatase (TNALP). Symptoms range from mild to severe depending on the patient and are classified into six types according to the age of onset: perinatal lethal form, perinatal benign form, infantile form, childhood form, adult form, and odontohypophosphatasia. If untreated, almost all patients with the perinatal lethal form and about half of those with the infantile form will die.